Incidental Mutation 'R1653:Ap2b1'
ID |
188871 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ap2b1
|
Ensembl Gene |
ENSMUSG00000035152 |
Gene Name |
adaptor-related protein complex 2, beta 1 subunit |
Synonyms |
1300012O03Rik |
MMRRC Submission |
039689-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1653 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
83189850-83295861 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 83237657 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 574
(Y574N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000070714
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018875]
[ENSMUST00000065692]
[ENSMUST00000176430]
[ENSMUST00000176523]
|
AlphaFold |
Q9DBG3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000018875
AA Change: Y574N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000018875 Gene: ENSMUSG00000035152 AA Change: Y574N
Domain | Start | End | E-Value | Type |
Pfam:Adaptin_N
|
10 |
534 |
2.6e-173 |
PFAM |
Pfam:HEAT_2
|
88 |
157 |
3.7e-8 |
PFAM |
Pfam:Cnd1
|
99 |
268 |
2.1e-40 |
PFAM |
Pfam:HEAT_2
|
124 |
219 |
1.4e-9 |
PFAM |
low complexity region
|
625 |
643 |
N/A |
INTRINSIC |
low complexity region
|
654 |
675 |
N/A |
INTRINSIC |
Alpha_adaptinC2
|
721 |
831 |
2.94e-18 |
SMART |
B2-adapt-app_C
|
840 |
950 |
9.93e-56 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000065692
AA Change: Y574N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000070714 Gene: ENSMUSG00000035152 AA Change: Y574N
Domain | Start | End | E-Value | Type |
Pfam:Adaptin_N
|
10 |
534 |
4.2e-173 |
PFAM |
Pfam:HEAT_2
|
88 |
157 |
2.7e-8 |
PFAM |
Pfam:Cnd1
|
99 |
268 |
1.5e-37 |
PFAM |
low complexity region
|
625 |
643 |
N/A |
INTRINSIC |
low complexity region
|
653 |
665 |
N/A |
INTRINSIC |
Alpha_adaptinC2
|
707 |
817 |
2.94e-18 |
SMART |
B2-adapt-app_C
|
826 |
936 |
9.93e-56 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132178
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000176430
AA Change: Y574N
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000134779 Gene: ENSMUSG00000035152 AA Change: Y574N
Domain | Start | End | E-Value | Type |
Pfam:Adaptin_N
|
10 |
534 |
4e-173 |
PFAM |
Pfam:HEAT_2
|
88 |
157 |
2.8e-8 |
PFAM |
Pfam:Cnd1
|
99 |
268 |
1.5e-37 |
PFAM |
low complexity region
|
625 |
643 |
N/A |
INTRINSIC |
low complexity region
|
654 |
675 |
N/A |
INTRINSIC |
Alpha_adaptinC2
|
721 |
831 |
2.94e-18 |
SMART |
B2-adapt-app_C
|
840 |
936 |
7.22e-35 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000176523
AA Change: Y536N
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000135445 Gene: ENSMUSG00000035152 AA Change: Y536N
Domain | Start | End | E-Value | Type |
Pfam:Adaptin_N
|
10 |
95 |
1.1e-26 |
PFAM |
Pfam:Cnd1
|
69 |
230 |
1.5e-26 |
PFAM |
Pfam:HEAT_2
|
85 |
182 |
5.1e-9 |
PFAM |
Pfam:Adaptin_N
|
90 |
496 |
4e-125 |
PFAM |
low complexity region
|
587 |
605 |
N/A |
INTRINSIC |
low complexity region
|
616 |
637 |
N/A |
INTRINSIC |
Alpha_adaptinC2
|
683 |
793 |
2.94e-18 |
SMART |
B2-adapt-app_C
|
802 |
912 |
9.93e-56 |
SMART |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.7%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit cleft palate. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34 |
A |
T |
8: 44,103,682 (GRCm39) |
C654* |
probably null |
Het |
Adamts19 |
T |
A |
18: 59,023,365 (GRCm39) |
N253K |
probably benign |
Het |
Adgrb3 |
A |
G |
1: 25,140,584 (GRCm39) |
L1162S |
probably benign |
Het |
Atrn |
A |
G |
2: 130,777,544 (GRCm39) |
I198V |
probably benign |
Het |
Bcan |
T |
A |
3: 87,901,503 (GRCm39) |
I400F |
probably damaging |
Het |
Capn10 |
A |
G |
1: 92,874,620 (GRCm39) |
Y617C |
probably damaging |
Het |
Capn8 |
A |
G |
1: 182,451,516 (GRCm39) |
N578D |
probably benign |
Het |
Casd1 |
T |
C |
6: 4,624,134 (GRCm39) |
L309P |
probably benign |
Het |
Ccser1 |
T |
A |
6: 61,288,449 (GRCm39) |
I204K |
probably benign |
Het |
Cd276 |
T |
C |
9: 58,444,732 (GRCm39) |
T80A |
probably benign |
Het |
Cdh3 |
T |
C |
8: 107,265,700 (GRCm39) |
S248P |
probably damaging |
Het |
Celsr2 |
T |
C |
3: 108,320,836 (GRCm39) |
T659A |
possibly damaging |
Het |
Col6a4 |
C |
T |
9: 105,949,608 (GRCm39) |
V676I |
probably damaging |
Het |
Crmp1 |
T |
A |
5: 37,443,812 (GRCm39) |
V575D |
probably damaging |
Het |
Ep400 |
G |
A |
5: 110,841,040 (GRCm39) |
Q1795* |
probably null |
Het |
Gcnt3 |
A |
G |
9: 69,942,359 (GRCm39) |
C70R |
probably damaging |
Het |
Gm12258 |
T |
C |
11: 58,749,113 (GRCm39) |
I96T |
possibly damaging |
Het |
Gpr183 |
A |
G |
14: 122,191,675 (GRCm39) |
F282S |
probably damaging |
Het |
Igfals |
T |
C |
17: 25,100,052 (GRCm39) |
V381A |
probably benign |
Het |
Irs3 |
C |
A |
5: 137,642,783 (GRCm39) |
L218F |
probably damaging |
Het |
Kdm5b |
T |
C |
1: 134,530,219 (GRCm39) |
F410S |
probably damaging |
Het |
Klc4 |
T |
C |
17: 46,942,785 (GRCm39) |
Y593C |
possibly damaging |
Het |
Lce1h |
T |
A |
3: 92,670,750 (GRCm39) |
Q134L |
unknown |
Het |
Lyst |
T |
C |
13: 13,809,811 (GRCm39) |
S494P |
probably damaging |
Het |
Marchf3 |
A |
G |
18: 56,944,967 (GRCm39) |
M42T |
probably benign |
Het |
Myh7 |
A |
G |
14: 55,228,246 (GRCm39) |
I250T |
probably benign |
Het |
N4bp1 |
G |
T |
8: 87,571,576 (GRCm39) |
H807Q |
probably benign |
Het |
Ndn |
C |
T |
7: 61,998,256 (GRCm39) |
P34L |
probably benign |
Het |
Nfs1 |
C |
T |
2: 155,967,256 (GRCm39) |
G44D |
probably damaging |
Het |
Nrg1 |
C |
T |
8: 32,308,681 (GRCm39) |
R445H |
probably damaging |
Het |
Or14c43 |
T |
C |
7: 86,115,420 (GRCm39) |
V267A |
probably benign |
Het |
Or4e5 |
A |
T |
14: 52,728,229 (GRCm39) |
F64Y |
probably damaging |
Het |
Or56a5 |
T |
A |
7: 104,793,077 (GRCm39) |
D141V |
possibly damaging |
Het |
Pak5 |
C |
T |
2: 135,958,807 (GRCm39) |
V94M |
probably damaging |
Het |
Pdk1 |
G |
A |
2: 71,719,339 (GRCm39) |
|
probably null |
Het |
Sin3b |
G |
T |
8: 73,468,147 (GRCm39) |
V290L |
probably benign |
Het |
Sirt1 |
T |
C |
10: 63,157,588 (GRCm39) |
T609A |
probably benign |
Het |
Skint5 |
A |
T |
4: 113,347,875 (GRCm39) |
S1289T |
unknown |
Het |
Slc32a1 |
A |
T |
2: 158,456,809 (GRCm39) |
H488L |
probably benign |
Het |
Slc35b3 |
A |
G |
13: 39,139,774 (GRCm39) |
S18P |
probably benign |
Het |
Spaca7 |
T |
A |
8: 12,636,501 (GRCm39) |
I109K |
possibly damaging |
Het |
Tmem204 |
A |
G |
17: 25,299,501 (GRCm39) |
L6P |
possibly damaging |
Het |
Tubgcp6 |
G |
A |
15: 88,991,645 (GRCm39) |
R651C |
probably damaging |
Het |
Vps13b |
T |
A |
15: 35,607,418 (GRCm39) |
L1117* |
probably null |
Het |
Wdcp |
T |
C |
12: 4,901,815 (GRCm39) |
L557P |
probably damaging |
Het |
Wwp2 |
T |
C |
8: 108,210,042 (GRCm39) |
F140S |
possibly damaging |
Het |
Zfp429 |
C |
T |
13: 67,538,043 (GRCm39) |
R467H |
possibly damaging |
Het |
Zfp747l1 |
G |
T |
7: 126,983,652 (GRCm39) |
H483Q |
possibly damaging |
Het |
Zfp839 |
T |
A |
12: 110,821,684 (GRCm39) |
M166K |
probably benign |
Het |
Zfyve9 |
G |
A |
4: 108,517,774 (GRCm39) |
Q1106* |
probably null |
Het |
Zrsr2-ps1 |
T |
A |
11: 22,924,158 (GRCm39) |
C311S |
probably damaging |
Het |
|
Other mutations in Ap2b1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00864:Ap2b1
|
APN |
11 |
83,223,984 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01583:Ap2b1
|
APN |
11 |
83,215,437 (GRCm39) |
missense |
possibly damaging |
0.61 |
IGL01753:Ap2b1
|
APN |
11 |
83,212,799 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01992:Ap2b1
|
APN |
11 |
83,226,356 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02192:Ap2b1
|
APN |
11 |
83,237,592 (GRCm39) |
missense |
possibly damaging |
0.48 |
IGL02315:Ap2b1
|
APN |
11 |
83,227,625 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL03235:Ap2b1
|
APN |
11 |
83,232,210 (GRCm39) |
missense |
probably benign |
0.41 |
P0045:Ap2b1
|
UTSW |
11 |
83,258,852 (GRCm39) |
missense |
probably damaging |
1.00 |
R0121:Ap2b1
|
UTSW |
11 |
83,212,793 (GRCm39) |
missense |
possibly damaging |
0.66 |
R0334:Ap2b1
|
UTSW |
11 |
83,258,700 (GRCm39) |
splice site |
probably benign |
|
R1222:Ap2b1
|
UTSW |
11 |
83,237,564 (GRCm39) |
missense |
probably benign |
0.06 |
R1297:Ap2b1
|
UTSW |
11 |
83,223,935 (GRCm39) |
missense |
probably damaging |
1.00 |
R1719:Ap2b1
|
UTSW |
11 |
83,215,430 (GRCm39) |
missense |
probably damaging |
1.00 |
R1885:Ap2b1
|
UTSW |
11 |
83,281,561 (GRCm39) |
missense |
probably damaging |
0.99 |
R1886:Ap2b1
|
UTSW |
11 |
83,281,561 (GRCm39) |
missense |
probably damaging |
0.99 |
R1965:Ap2b1
|
UTSW |
11 |
83,237,721 (GRCm39) |
missense |
probably benign |
0.00 |
R1966:Ap2b1
|
UTSW |
11 |
83,237,721 (GRCm39) |
missense |
probably benign |
0.00 |
R2046:Ap2b1
|
UTSW |
11 |
83,227,212 (GRCm39) |
missense |
probably benign |
0.14 |
R2086:Ap2b1
|
UTSW |
11 |
83,241,944 (GRCm39) |
missense |
possibly damaging |
0.88 |
R2132:Ap2b1
|
UTSW |
11 |
83,215,587 (GRCm39) |
splice site |
probably benign |
|
R3615:Ap2b1
|
UTSW |
11 |
83,215,391 (GRCm39) |
missense |
possibly damaging |
0.84 |
R3616:Ap2b1
|
UTSW |
11 |
83,215,391 (GRCm39) |
missense |
possibly damaging |
0.84 |
R3983:Ap2b1
|
UTSW |
11 |
83,281,542 (GRCm39) |
missense |
probably damaging |
1.00 |
R4124:Ap2b1
|
UTSW |
11 |
83,256,471 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4125:Ap2b1
|
UTSW |
11 |
83,256,471 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4198:Ap2b1
|
UTSW |
11 |
83,233,429 (GRCm39) |
missense |
probably damaging |
1.00 |
R4202:Ap2b1
|
UTSW |
11 |
83,226,430 (GRCm39) |
critical splice donor site |
probably null |
|
R4543:Ap2b1
|
UTSW |
11 |
83,215,476 (GRCm39) |
missense |
probably damaging |
1.00 |
R4583:Ap2b1
|
UTSW |
11 |
83,288,605 (GRCm39) |
missense |
probably benign |
0.00 |
R4589:Ap2b1
|
UTSW |
11 |
83,223,837 (GRCm39) |
nonsense |
probably null |
|
R4916:Ap2b1
|
UTSW |
11 |
83,281,532 (GRCm39) |
missense |
probably damaging |
1.00 |
R5005:Ap2b1
|
UTSW |
11 |
83,230,218 (GRCm39) |
missense |
probably damaging |
1.00 |
R5385:Ap2b1
|
UTSW |
11 |
83,233,427 (GRCm39) |
missense |
probably damaging |
1.00 |
R5510:Ap2b1
|
UTSW |
11 |
83,227,563 (GRCm39) |
splice site |
probably null |
|
R5738:Ap2b1
|
UTSW |
11 |
83,227,256 (GRCm39) |
splice site |
probably null |
|
R6023:Ap2b1
|
UTSW |
11 |
83,226,224 (GRCm39) |
missense |
probably damaging |
0.99 |
R6269:Ap2b1
|
UTSW |
11 |
83,237,499 (GRCm39) |
missense |
probably damaging |
1.00 |
R6383:Ap2b1
|
UTSW |
11 |
83,237,651 (GRCm39) |
missense |
probably damaging |
1.00 |
R6416:Ap2b1
|
UTSW |
11 |
83,199,065 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
R6502:Ap2b1
|
UTSW |
11 |
83,233,505 (GRCm39) |
missense |
probably damaging |
0.97 |
R6810:Ap2b1
|
UTSW |
11 |
83,226,317 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6969:Ap2b1
|
UTSW |
11 |
83,280,552 (GRCm39) |
missense |
probably damaging |
0.99 |
R7238:Ap2b1
|
UTSW |
11 |
83,223,948 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7241:Ap2b1
|
UTSW |
11 |
83,241,931 (GRCm39) |
missense |
probably benign |
0.16 |
R7429:Ap2b1
|
UTSW |
11 |
83,258,824 (GRCm39) |
missense |
probably benign |
0.00 |
R7588:Ap2b1
|
UTSW |
11 |
83,215,348 (GRCm39) |
missense |
probably benign |
0.00 |
R7635:Ap2b1
|
UTSW |
11 |
83,280,554 (GRCm39) |
missense |
probably benign |
0.09 |
R7651:Ap2b1
|
UTSW |
11 |
83,230,256 (GRCm39) |
critical splice donor site |
probably null |
|
R7753:Ap2b1
|
UTSW |
11 |
83,258,733 (GRCm39) |
nonsense |
probably null |
|
R8468:Ap2b1
|
UTSW |
11 |
83,241,891 (GRCm39) |
missense |
probably damaging |
1.00 |
R8943:Ap2b1
|
UTSW |
11 |
83,237,579 (GRCm39) |
missense |
probably damaging |
1.00 |
R9093:Ap2b1
|
UTSW |
11 |
83,215,395 (GRCm39) |
missense |
probably damaging |
1.00 |
R9621:Ap2b1
|
UTSW |
11 |
83,293,424 (GRCm39) |
missense |
probably damaging |
1.00 |
X0064:Ap2b1
|
UTSW |
11 |
83,215,395 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Ap2b1
|
UTSW |
11 |
83,256,579 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCTTTAGGACTCCGATAACCCTGAC -3'
(R):5'- CTCAGAGAAAGAAGCTCTTCAGAGCAG -3'
Sequencing Primer
(F):5'- GATAACCCTGACCTTCGAGATCG -3'
(R):5'- GCTCTTCAGAGCAGCAAGG -3'
|
Posted On |
2014-05-09 |